Structural Variation Detection

Identification of sequence variation is an important first step in determining critical genetic components of a phenotype. Structural variations (SVs) impact large stretches of sequence and are likely to impact phenotype. Retaining long-range contiguity throughout the genome mapping process is critical for any comprehensive study of genome structure and function, particularly for the analysis of structural variation in complex genomes. Bionano genome mapping offers unmatched sensitivity for the detection of large SVs.

Figure 2. DLS assembles the entire human chromosome 10 in two single maps, separated by the centromere (top). Gene positions are shown in green. Insert shows multiple large rearrangements assembled into a single map in the 10q11.21 region involved in intellectual disability/developmental delay.